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Mineralocorticoid Deficiency as an Early Presenting Symptom of Allgrove Syndrome With Novel Mutation: A Case Report
Journal article   Open access  Peer reviewed

Mineralocorticoid Deficiency as an Early Presenting Symptom of Allgrove Syndrome With Novel Mutation: A Case Report

Hashem A AlOmran, Fadi Busaleh, Zahra Alhashim, Manal AlHelal, Yasen Alsaleh, Aida AlJabri, Zahra A AlGhadeer, Fatimah Y AlHejji, Mousa AlMazeedi and Abdulelah M Al dandan
Curēus (Palo Alto, CA), Vol.13(11), p.e19316
06/11/2021
DOI: https://doi.org/10.7759/cureus.19316
PMID: 34900490

Abstract

achalasia cardia alacrimia allgrove syndrome Diabetes Endocrinology Metabolism Pediatrics primary adrenal insufficiency triple a syndrome
Allgrove syndrome or Triple-A syndrome is a triad of achalasia, alacrimia, and adrenal insufficiency. It is a rare disease that’s only described in the literature with no known incidence rate. Atypical presentation of some cases is rarely seen, especially with monotonous symptoms. We are describing an early age of presentation with dual symptoms of Allgrove Syndrome than the triplet with novel homozygous variant at c.885G>A in the AAAS gene.
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https://doi.org/10.7759/cureus.19316View
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